ClinVar Miner

List of variants reported as pathogenic for Leber congenital amaurosis by Invitae

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
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HGVS dbSNP
NC_000001.10:g.(?_10041069)_(10042779_?)del
NC_000001.10:g.(?_197237324)_(197237622_?)del
NC_000017.10:g.(?_7906220)_(7919868_?)del
NM_000180.3(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168
NM_000180.3(GUCY2D):c.2377delG (p.Glu793Asnfs) rs1555635668
NM_000180.3(GUCY2D):c.2563C>T (p.Gln855Ter) rs1555635778
NM_000180.3(GUCY2D):c.3224+1G>C
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.3(GUCY2D):c.914del (p.His305Profs)
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) rs62642583
NM_000329.3(RPE65):c.1067dup (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr) rs121917744
NM_000329.3(RPE65):c.10del (p.Gln4fs) rs747393487
NM_000329.3(RPE65):c.11+5G>A rs61751276
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) rs368088025
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) rs61752877
NM_014336.5(AIPL1):c.265T>C (p.Cys89Arg) rs1264794214
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014
NM_020366.3(RPGRIP1):c.2017C>T (p.Gln673Ter) rs1566341956
NM_020366.3(RPGRIP1):c.2302C>T (p.Arg768Ter)
NM_022787.4(NMNAT1):c.716T>C (p.Leu239Ser) rs778606847
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter) rs104894471
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) rs28940315
NM_152443.3(RDH12):c.379G>T (p.Gly127Ter) rs104894474
NM_152443.3(RDH12):c.609C>A (p.Ser203Arg)
NM_152443.3(RDH12):c.784dup (p.Ala262fs)
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter) rs114342808
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter) rs137853137
NM_201253.3(CRB1):c.2425C>T (p.Gln809Ter)
NM_201253.3(CRB1):c.2548G>A (p.Gly850Ser)
NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr) rs62636271
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter) rs62636273
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748
NM_201253.3(CRB1):c.3037C>T (p.Gln1013Ter)
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg) rs62636275
NM_201253.3(CRB1):c.4168C>T (p.Arg1390Ter)
NM_201253.3(CRB1):c.437_440AGAT[1] (p.Asp148fs)

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